Varaico: Literature-Extracted Genetic Variants

Gene:NECAP2
Variant:p.Q262L

NECAP2

26 papers

RefSeq Summary

This gene likely encodes a member of the adaptin-ear-binding coat-associated protein family. Studies of a similar protein in rat suggest a role in clathrin-mediated endocytosis. Alternatively spliced ...

Pfam Domains

DUF1681aa 6–163UCSCProtein of unknown function (DUF1681)

Gene Aliases

HGNC Name

NECAP endocytosis associated 2

HGNC Alias Symbol

FLJ10420

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018090.5
p.Q262L
c.785A>T
Surrounding Variants
1 paper
NM_018090.5
p.D242E
c.726C>A
1 paper
NM_018090.5
p.D242E
c.726C>G
1 paper
NM_018090.5
p.G223Splc
c.668-1395T>G
1 paper
NM_018090.5
p.K195E
c.583A>G
2 papers
NM_018090.5
p.R176Q
c.527G>A
1 paper
NM_018090.5
p.A163_N164Splc
c.490-3T>C
1 paper
NM_018090.5
p.Q144*
c.430C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."